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cervical hypertrichosis-peripheral neuropathy syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993.
Mondo Term and Equivalent IDs
MONDO:0009405:  cervical hypertrichosis-peripheral neuropathy syndrome
GARD:0001226: 
MESH:C565492: 
Orphanet:2218: 
UMLS:C1855902: 
UMLS:C2931676: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found